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Clinical Genetics
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March 13, 2016
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
S Boppudi, N Bögershausen, H B Hove, et al.
JAMA Pediatrics
|
November 17, 2025
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial
Ravi Savarirayan, Ciara McDonnell, Carlos A Bacino, et al.
Clinical Genetics
|
April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patients
Daniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
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of 6
Search research articles
Search
Showing results (51-60 of 56) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 56 results.
Clinical Genetics
|
March 13, 2016
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
S Boppudi, N Bögershausen, H B Hove, et al.
JAMA Pediatrics
|
November 17, 2025
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial
Ravi Savarirayan, Ciara McDonnell, Carlos A Bacino, et al.
Clinical Genetics
|
April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patients
Daniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Page
of 6